@article {1318863,
	title = {Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases},
	journal = {Nat Commun},
	volume = {9},
	number = {1},
	year = {2018},
	month = {2018 May 14},
	pages = {1864},
	abstract = {Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, \&gt;20\% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 {\texttimes} 10) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.},
	issn = {2041-1723},
	doi = {10.1038/s41467-018-03646-6},
	author = {Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and H{\"o}hn, Ren{\'e} and Springelkamp, Henri{\"e}t and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Pola{\v s}ek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Yuan Shi and van Leeuwen, Elisabeth M and Taylor, Kent D and Blue Mountains Eye Study{\textemdash}GWAS group and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consortium 2 (WTCCC2) and Uitterlinden, Andr{\'e} G and Vithana, Eranga N and Foster, Paul J and Hysi, Pirro G and Hewitt, Alex W and Khor, Chiea Chuen and Pasquale, Louis R and Montgomery, Grant W and Klaver, Caroline C W and Aung, Tin and Pfeiffer, Norbert and Mackey, David A and Hammond, Christopher J and Cheng, Ching-Yu and Craig, Jamie E and Rabinowitz, Yaron S and Wiggs, Janey L and Burdon, Kathryn P and van Duijn, Cornelia M and Macgregor, Stuart}
}
